SLC1A4 gene

solute carrier family 1 member 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]

From UniProt:

Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence.

From NCBI Gene:

  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly

From UniProt:

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM): A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech. [MIM:616657]

Cytogenetic Location: 2p14, which is the short (p) arm of chromosome 2 at position 14

Molecular Location: base pairs 64,988,445 to 65,023,865 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p14, which is the short (p) arm of chromosome 2 at position 14
  • ASCT1
  • SATT
  • SPATCCM